Other congenital malformations of peripheral vascular system

Q17_OTHER_CONGEN_MALFO_PERIP_VASCULAR_SYSTEM

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

None

520210

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 Q27
  • Cause of death: ICD-10 Q27

2 out of 7 registries used, show all original rules.

490

4. Check minimum number of events

None

490

5. Include endpoints

None

490

6. Filter based on genotype QC (FinnGen only)

490

Control definitions (FinnGen only)

Control exclude
Q17_CONGEN_MALFO_CIRCULATO_SYSTEM

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q2
Name in latin
Aliae malformationes congenitae systematis vascularis peripherici

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 3588 2038 1530
Only index persons 3103 1810 1293
Unadjusted period prevalence (%)
Whole population 0.05 0.06 0.04
Only index persons 0.06 0.07 0.05
Median age at first event (years)
Whole population 27.46 30.77 22.92
Only index persons 31.03 32.77 28.60

-FinnGen-

Key figures

All Female Male
Number of individuals 490 322 168
Unadjusted period prevalence (%) 0.10 0.11 0.07
Median age at first event (years) 44.06 40.95 50.03

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

No data

CodeWAS (R11)

CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.

This is a new tool, please reach out using the contact form for feedback and improvement ideas.

First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log10(p-value) ≥ 6.

Matched cohort

Matched cases
425
Matched controls
4250
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q27.3
ICD-10 Finland
Peripheral arteriovenous malformation
+∞
170.6
152
*
Q27.4
ICD-10 Finland
Congenital phlebectasia
+∞
154.9
139
*
Q27.9
ICD-10 Finland
Congenital malformation of peripheral vascular system, unspecified
+∞
100.0
92
*
D18.0
ICD-10 Finland
Haemangioma, any site
43.9
88.2
109
33
Q27.88
ICD-10 Finland
Other specified congenital malformation of peripheral vascular system
+∞
80.8
75
*
PG1DE
NOMESCO Finland
Other extensive ultrasound examination of artery
14.4
46.4
81
68
QX3LT
NOMESCO Finland
Subcutaneous sclerotherapy
498.2
46.2
45
*
XX6KT
NOMESCO Finland
Other sclerotherapy
376.4
35.5
35
*
D18.1
ICD-10 Finland
Lymphangioma, any site
264.7
24.9
25
*
Z2221
NOMESCO Finland
Medical doctor
3.0
22.7
174
797
Q27.0
ICD-10 Finland
Congenital absence and hypoplasia of umbilical artery
+∞
21.0
20
*
ZXE10
NOMESCO Finland
More than one and less than three hours
2.8
20.4
184
918
ZXD10
NOMESCO Finland
Scheduled procedure
2.6
19.3
201
1079
PG1HT
NOMESCO Finland
Extensive endovascular embolisation of arterio-venous malformation not elsewhere classified
+∞
18.9
18
*
Q82.50
ICD-10 Finland
Naevus flammeus
73.2
18.9
21
*
XX4BW
NOMESCO Finland
NA
55.0
18.1
21
*
WX404
NOMESCO Finland
Intravenous generell anesthesy
2.9
18.1
131
559
EP1LT
NOMESCO Finland
Percutaneous sclerotherapy of vascular malformation of head and neck
+∞
16.8
16
*
D48.1
ICD-10 Finland
Neoplasm of uncertain or unknown behaviour: Connective and other soft tissue
14.2
16.7
28
21
Q87.21
ICD-10 Finland
Klippel-Trénaunay-Weber syndrome
+∞
15.7
15
*
ZXE20
NOMESCO Finland
More than three and less than five hours
3.4
14.7
77
260
R4110
NOMESCO Finland
Physiotherapy
2.5
14.5
135
658
PG1GT
NOMESCO Finland
Endovascular embolisation of arterio-venous malformation with radiological guidance not elsewhere classified
+∞
13.6
13
*
JN5LT
NOMESCO Finland
Sclerotherapy with direct puncture body area
144.3
13.5
14
*
22700
ICD-8 Finland
Haemangioma and lymphangioma, Haemangioma
144.3
13.5
14
*
2280A
ICD-9 Finland
Haemangioma and lymphangioma, any site, Haemangioma, any site
41.4
13.2
16
*
QA4S1
NOMESCO Finland
Photography of skin or subcutaneous tissue in face
33.1
12.6
16
5
QX3HE
NOMESCO Finland
Ultrsound examination of lesion close to skin
9.7
12.1
24
26
ZXC12
NOMESCO Finland
Pulse colorlaser
27.6
12.1
16
6
Q27.2
ICD-10 Finland
Other congenital malformations of renal artery
+∞
11.5
11
*
Q27.1
ICD-10 Finland
Congenital renal artery stenosis
+∞
11.5
11
*
PG1JT
NOMESCO Finland
Very extensive endovascular embolisation of arterio-venous malformation not elsewhere classified
123.1
11.5
12
*
Z3226
NOMESCO Finland
Physiotherapist
2.4
10.9
100
474
Q82.58
ICD-10 Finland
Congenital non-neoplastic naevus
18.4
10.8
16
9
WX408
NOMESCO Finland
General anesthesy, balanced
2.2
10.7
133
727
QX2XE
NOMESCO Finland
Ultrsound examination of soft tissue not elsewhere classified
7.3
10.7
25
36
QX3KT
NOMESCO Finland
NA
+∞
10.5
10
*
ZXE00
NOMESCO Finland
One hour or less
2.0
10.4
188
1202
ZXA05
NOMESCO Finland
Left side
2.4
10.4
103
507
EP1DG
NOMESCO Finland
Very extensive examination of soft tissue of neck with high intesity magnet
24.0
10.3
14
6
Z3231
NOMESCO Finland
Registered nurse
2.1
9.7
133
754
Z31.5
ICD-10 Finland
Genetic counselling
3.9
9.6
39
107
QB9S1
NOMESCO Finland
Photography of skin or subcutaneous tissue in torso, unspecified
18.0
9.5
14
8
QAA40
NOMESCO Finland
Laser therapy or photocoagulation of skin of head or neck
18.0
9.5
14
8
PB1AC
NOMESCO Finland
Angiography of upper extremity with X-ray
102.1
9.4
10
*
I77.0
ICD-10 Finland
Arteriovenous fistula, acquired
+∞
9.4
9
*
ZXA00
NOMESCO Finland
Right side
2.2
9.1
105
553
R22.3
ICD-10 Finland
Localized swelling, mass and lump, upper limb
9.3
8.6
17
19
I78.0
ICD-10 Finland
Hereditary haemorrhagic telangiectasia
91.7
8.4
9
*
Q28.8
ICD-10 Finland
Other specified congenital malformations of circulatory system
+∞
8.4
8
*
PA5AC
NOMESCO Finland
Angiography of arteries to the face with X-ray
+∞
8.4
8
*
Q27.80
ICD-10 Finland
Congenital stricture, artery
+∞
8.4
8
*
PG1XE
NOMESCO Finland
Other ultrasound examination of blood vessel not elsewhere classified
34.0
8.1
10
*
QDE10
NOMESCO Finland
Excision of other lesion extending through all layers of skin in lower limb
5.3
8.0
23
45
WX700
NOMESCO Finland
Respiratory and circulatory monitoring
2.4
7.9
70
323
EP1AE
NOMESCO Finland
Neck ultrasound examination
4.0
7.8
30
79
AA1DG
NOMESCO Finland
Very extensive MRI examination of brain with high intensity magnet
4.4
7.5
26
62
PG1CG
NOMESCO Finland
Extensive MRI examination of vasculature with high intensity magnet not elsewhere classified
81.4
7.4
8
*
QAE40
NOMESCO Finland
Repair of anomaly or lesion after disease of skin of head or neck
81.4
7.4
8
*
Q21.10
ICD-10 Finland
Persistent ostium secundum
+∞
7.3
7
*
PG1DG
NOMESCO Finland
Very extensive MRI examination of vasculature with high intensity magnet not elsewhere classified
+∞
7.3
7
*
I15.0
ICD-10 Finland
Renovascular hypertension
30.5
7.2
9
*
NDR20
NOMESCO Finland
Incomplete excision of soft tissue tumour of wrist or hand
12.3
7.1
12
10
WX402
NOMESCO Finland
General anaesthesia
2.1
7.0
83
436
XF400
NOMESCO Finland
ECG with 12 standard connections
2.3
7.0
67
323
D50.0
ICD-10 Finland
Iron deficiency anaemia secondary to blood loss (chronic)
5.6
6.7
18
33
H02AB06
ATC
prednisolone; systemic
1.7
6.7
176
1229
WX002
NOMESCO Finland
Sedation and analgesia
2.1
6.5
76
401
I87.8
ICD-10 Finland
Other specified disorders of veins
70.8
6.4
7
*
PA2BG
NOMESCO Finland
MRI examination of vessels in the head with high intensity magnet
70.8
6.4
7
*
FM2CE
NOMESCO Finland
NA
8.3
6.4
13
16
N02AJ06
ATC
codeine and paracetamol; systemic
1.8
6.4
148
993
QAA25
NOMESCO Finland
Destruction of lesion of head or neck
6.1
6.4
16
27
ZXE30
NOMESCO Finland
More than five and less than seven hours
3.6
6.3
27
79
M79.6
ICD-10 Finland
Pain in limb
1.8
6.3
135
883
Q21.11
ICD-10 Finland
Paten or persistent foramen ovale
+∞
6.3
6
*
QX3AT
NOMESCO Finland
Ultrasound guided biopsy of subcutaneous tissue
27.1
6.2
8
*
PH1AE
NOMESCO Finland
Ultrasound examination of upper extremity veins
8.8
6.1
12
14

Mortality – FinRegistry

Association

Association between endpoint Q17_OTHER_CONGEN_MALFO_PERIP_VASCULAR_SYSTEM and mortality.

Females

Parameter HR [95% CI] p-value
Q17_OTHER_CONGEN_MALFO_PERIP_VASCULAR_SYSTEM 1.126 [0.85, 1.5] 0.416
Birth year 0.994 [0.99, 1.0] 0.189

During the follow-up period (1.1.1998 — 31.12.2019), 59 out of 1690 females with Q17_OTHER_CONGEN_MALFO_PERIP_VASCULAR_SYSTEM died.

Males

Parameter HR [95% CI] p-value
Q17_OTHER_CONGEN_MALFO_PERIP_VASCULAR_SYSTEM 1.198 [0.87, 1.65] 0.266
Birth year 0.987 [0.98, 1.0] 0.006

During the follow-up period (1.1.1998 — 31.12.2019), 67 out of 1287 males with Q17_OTHER_CONGEN_MALFO_PERIP_VASCULAR_SYSTEM died.

Mortality risk

Mortality risk for people of age

years, who have Q17_OTHER_CONGEN_MALFO_PERIP_VASCULAR_SYSTEM.

N-year risk Females Males
1 0.135% 0.224%
5 0.647% 1.384%
10 1.645% 3.654%
15 3.268% 6.451%
20 5.809% 10.974%

Relationships between endpoints

Index endpoint: Q17_OTHER_CONGEN_MALFO_PERIP_VASCULAR_SYSTEM – Other congenital malformations of peripheral vascular system

GWS hits: -

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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